• Gene id: 2060

Gene Summary

• Gene Symbol: EPS15   Gene   UCSC   Ensembl
• Aliases: AF-1P, AF1P, MLLT5
• Gene name: epidermal growth factor receptor pathway substrate 15
• Alternate names: epidermal growth factor receptor substrate 15, ALL1 fused gene from chromosome 1, protein AF-1p,
• Gene location: 1p32.3 (51519274: 51354262)     Exons: 26     NC_000001.11
• Gene summary(Entrez): This gene encodes a protein that is part of the EGFR pathway. The protein is present at clatherin-coated pits and is involved in receptor-mediated endocytosis of EGF. Notably, this gene is rearranged with the HRX/ALL/MLL gene in acute myelogeneous leukemi
• OMIM: 600051

Protein Summary

• Protein general information: P42566  
  • Name: Epidermal growth factor receptor substrate 15 (Protein Eps15) (Protein AF 1p)
  • Length: 896  
  • Mass: 98656
  • Tissue specificity: Ubiquitously expressed.
• Sequence:

  MAAAAQLSLTQLSSGNPVYEKYYRQVDTGNTGRVLASDAAAFLKKSGLPDLILGKIWDLADTDGKGILNKQEFFV
  ALRLVACAQNGLEVSLSSLNLAVPPPRFHDTSSPLLISGTSAAELPWAVKPEDKAKYDAIFDSLSPVNGFLSGDK
  VKPVLLNSKLPVDILGRVWELSDIDHDGMLDRDEFAVAMFLVYCALEKEPVPMSLPPALVPPSKRKTWVVSPAEK
  AKYDEIFLKTDKDMDGFVSGLEVREIFLKTGLPSTLLAHIWSLCDTKDCGKLSKDQFALAFHLISQKLIKGIDPP
  HVLTPEMIPPSDRASLQKNIIGSSPVADFSAIKELDTLNNEIVDLQREKNNVEQDLKEKEDTIKQRTSEVQDLQD
  EVQRENTNLQKLQAQKQQVQELLDELDEQKAQLEEQLKEVRKKCAEEAQLISSLKAELTSQESQISTYEEELAKA
  REELSRLQQETAELEESVESGKAQLEPLQQHLQDSQQEISSMQMKLMEMKDLENHNSQLNWCSSPHSILVNGATD
  YCSLSTSSSETANLNEHVEGQSNLESEPIHQESPARSSPELLPSGVTDENEVTTAVTEKVCSELDNNRHSKEEDP
  FNVDSSSLTGPVADTNLDFFQSDPFVGSDPFKDDPFGKIDPFGGDPFKGSDPFASDCFFRQSTDPFATSSTDPFS
  AANNSSITSVETLKHNDPFAPGGTVVAASDSATDPFASVFGNESFGGGFADFSTLSKVNNEDPFRSATSSSVSNV
  VITKNVFEETSVKSEDEPPALPPKIGTPTRPCPLPPGKRSINKLDSPDPFKLNDPFQPFPGNDSPKEKDPEIFCD
  PFTSATTTTNKEADPSNFANFSAYPSEEDMIEWAKRESEREEEQRLARLNQQEQEDLELAIALSKSEISEA

• Structural information:
  • Protein Domains: (15..10-)
    (/note="EH-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00077-)
    (128..21-)
    (/note="EH-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00077-)
    (160..19-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (-)
  • Interpro: IPR011992  IPR018247  IPR002048  IPR000261  IPR003903  
  • Prosite: PS00018 PS50222 PS50031 PS50330
  • CDD: cd00052
  • PDB: 1C07 1EH2 1F8H 1FF1 2IV9 2JXC 4RH5 4RH9 4RHG 4S0G 5AWT 5AWU 5JP2
  • PDBsum: 1C07 1EH2 1F8H 1FF1 2IV9 2JXC 4RH5 4RH9 4RHG 4S0G 5AWT 5AWU 5JP2
  • DIP: 33064
  • STRING: ENSP00000360798
• Other Databases: GeneCards:  EPS15  Malacards:  EPS15

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0019065	receptor-mediated endocytosis of virus by host cell	IMP	biological process
GO:0046718	viral entry into host cell	IMP	biological process
GO:0006897	endocytosis	IBA	biological process
GO:0016197	endosomal transport	IBA	biological process
GO:0030132	clathrin coat of coated pit	IBA	cellular component
GO:0031593	polyubiquitin modification-dependent protein binding	IDA	molecular function
GO:0016235	aggresome	IDA	cellular component
GO:0006895	Golgi to endosome transport	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0016032	viral process	IEA	biological process
GO:0006897	endocytosis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0042059	negative regulation of epidermal growth factor receptor signaling pathway	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0061024	membrane organization	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030122	AP-2 adaptor complex	IEA	cellular component
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0032456	endocytic recycling	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0060170	ciliary membrane	IEA	cellular component
GO:0042802	identical protein binding	IEA	molecular function
GO:0030136	clathrin-coated vesicle	IEA	cellular component
GO:0030132	clathrin coat of coated pit	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0098884	postsynaptic neurotransmitter receptor internalization	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0009925	basal plasma membrane	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0001921	positive regulation of receptor recycling	IEA	biological process
GO:0045296	cadherin binding	HDA	molecular function
GO:0032456	endocytic recycling	IC	biological process
GO:0048268	clathrin coat assembly	IDA	biological process
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0031901	early endosome membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0098794	postsynapse	IEA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0016050	vesicle organization	TAS	biological process
GO:0005905	clathrin-coated pit	TAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

Associated diseases	References
Oligozoospermia	MIK: 21989496
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21989496	Oligozoospermia			11 (8 infertile and 3 fertile men)	Male infertility	Microarray